Two lovely genetic counselors and leaders within the National Society of Genetic Counselors paired up to experience and write about having ancestry testing to learn more about their Hispanic roots. As NSGC’s Ancestry Expert, I was invited along to provide commentary. The post went up recently, just in time to recognize Hispanic Heritage month. Check it out!
The Base Pair posts are a series I started to highlight professionals in medical genetics who are a stellar team or have a special history that bonds them, like genetic base pairs A, T, G, and C in a DNA double helix. This Base Pair post is about Janet and Marc Williams, a beloved pair in the world of medical genetics and genetic counseling.
Last month I published the first #DNASurprise story, written by Casey who discovered a family surprise after DNA testing. Another person, Mary, has bravely volunteered to share her story as well.
From Brianne: Today's post is written by a guest writer. I'll call her Casey. Casey shares with us her DNA surprise, a shocking realization about herself and her connection with family that unfolded over time. I applaud Casey for finding the courage to write down her story. Writing can be difficult, triggering, and healing.
I know many of you will relate to Casey, even if your story is somewhat different. If you'd like to see your #DNASurprise story shared here, reach out to me. You never know how your story might help another person who's in your same shoes.
If you'd like to join a secret support group on Facebook for the DNA Surprise you've discovered about yourself or another person, send me a DM. I'll need to hear a summary of your situation make sure the group is a good fit, then you'll need to send me the email address you have associated with your Facebook account so I can add you.
“Do you wish you’d never done a DNA test?”
A friend at work asked me this question recently. For the first time in months, I had to really think about my answer.
“No,” I said, realizing that I actually meant it. Earlier this year, that answer would have been unthinkable. But as the word came out of my mouth, I knew it was the truth.
I grew up as the daughter of a single mom. My father and my mother had divorced soon after a hasty marriage in college, and he was an absent parent. I was very close to my grandparents, my great grandmother, and my aunts, uncles, and cousins; while I felt the absence of a father in my life, I had plenty of family around. My father and I met in my teens and a somewhat cordial but strained relationship developed, then died out when I moved away to attend college. We rarely speak, and my half sister from his second marriage is a stranger.
My maternal grandparents had always been interested in family history and genealogy, and I grew up hearing stories of cleaning up old family cemeteries, road trips to old homesteads, and hours spent in archives researching our family tree. When I married and had my own child, my interest in finding my own family history was piqued, and I began researching and building my family tree. Finding documents, stories, and sometimes even photographs of ancestors made them come alive to me, and I loved putting together the stories of their births, marriages, babies, jobs, houses, and moves throughout the country. I felt connected to these people and deeply rooted in my family history.
I felt connected to these people and deeply rooted in my family history.
In 2014, consumer DNA tests were gaining popularity among genealogists. I saved up my money, waited for a sale, and spit into a tube, eagerly awaiting my results. They were pretty much what I expected—my ethnicity showed I was from Great Britain, Ireland, and Scotland, with some Scandinavian and a few other European areas thrown in. I had a list of people who shared my DNA, although I could actually place only a handful—my mother’s second cousin, a few third and fourth cousins on my mom’s side. I even had a couple of matches who seemed to share really distant ancestors on my father’s side. I knew, through my research, that some of my maternal grandmother’s ancestors had immigrated from Ireland, and my maternal grandfather’s ancestors were from Scotland by way of Northern Ireland. My father’s family had immigrated from Ireland in the 1700s. So I was Irish, Scottish, and English? Not a surprise.
As time passed, I got more DNA matches, but few were closely related, and even fewer were recognizable. I became active in genealogy forums on Facebook, and helped answer DNA and genealogy questions from “newbies.” Consumer DNA testing grew in popularity, and more matches rolled in every week. Although I’d done my DNA test on ancestry.com, I decided to upload my DNA test results to other, smaller sites to see my DNA matches there. I wanted to confirm some of my genealogical ancestor “guesses” and find new relatives.
As time passed, I got more DNA matches, but few were closely related, and even fewer were recognizable.
In January of 2018, I got a notification from one of those other sites. The “You have a new DNA match!” emails were pretty common, and the matches were so distantly related that I couldn’t figure out how we were connected. I ignored most of them, but for some reason, I opened this email. The match was a close one—this man and I shared DNA at the level of a half brother or uncle—and I didn’t recognize the name. At all. What?
My new DNA match didn’t match my maternal relatives, so he was clearly related to my father. I spent several hours trying to figure out how it was possible my father had been adopted, as he was the middle child of a happily married couple and he definitely resembled his parents and siblings. Or, I wondered, had my grandparents somehow given up a child (who was now around my father’s age) for adoption? Yes: I, a reasonably intelligent researcher, a person who sometimes helped others with their genealogy and DNA questions, went there. My only excuse is that when it’s your DNA surprise—your story—sometimes you can’t see the forest for the trees.
When it’s your DNA surprise—your story—sometimes you can’t see the forest for the trees.
To make a long story short: the match was my paternal uncle. My biological father was not who my mother (or I) always thought he was—he was a college friend of my mom’s, and this was a surprise to her as well as to me. We were both stunned, shocked, and I think we probably both felt like we were going to throw up when we finally were able to talk about it.
The family I’d always known as mine, wasn’t. Those ancestors I’d carefully researched and whose stories I’d cherished? Not mine. But the worst part was that my biological dad was deceased. I’d never get a chance to meet him—for closure, or curiosity, or any other reason. Door shut. End of story.
Over the next few months, I felt like my world had turned upside down. I felt lost...it’s hard to find out in your late 40s that you aren’t who you thought you were all of your life, and I didn’t take it well. I cried at inopportune moments, I wondered what I’d done to anger the Universe, and I grieved for that family I’d lost. Similarly, I found myself mourning the relationship with the man I’d always thought was my father, though it had been practically nonexistent for years. I’d always harbored a tiny hope that we’d fix it someday. Now, there was not even a biological link to tie us together when nothing else had.
I felt like my world had turned upside down.
But—and there’s usually a “but” in these stories, right? I have a living uncle, with a kind and accepting wife, who wants to meet me. I have an amazing brother who is about a year younger than me and is like me in so many ways. He makes me laugh, and challenges me, and inspires me to be a a good big sister and a better person overall. I wish we’d been able to know each other growing up, but I’m glad we do now.
Is the “surprise dad” thing still hard? Oh, yeah. There are days when I have trouble dealing with my emotions. I’ll suddenly think of my not-father’s parents and miss them—and wonder if they ever suspected. (I don't think so.) I’ll drive by a battlefield where a relative died and think of his sacrifice…and then remember he’s not my relative. I think about my not-father and our fractured relationship, and I feel sad and guilty. I think of the lost opportunities to know my biological family--especially my grandmother, who by all accounts was a wonderful lady--and all the years I missed out on knowing my brother. It hurts.
I’ve gained so much, though, and that’s why my answer to my friend’s question was “no.” I don’t regret doing the DNA test. I’m slowly developing relationships with my new family, and I’ll be meeting them for the first time this summer. I’m learning about my history and undiscovered ancestors. I’m adding their stories in my family tree to those of my former ancestors, who still hold a place in my heart even though we don’t share genes. I know the truth now, and while sometimes the truth is uncomfortable and scary and sad, it’s also important. I’m a different person now, I think—or maybe I’m the same person, just with different roots and a different family. Everything I thought about myself has been challenged, and it’s been hard. But I think things will be OK. I think I’ll be OK.
Thank you for sharing, Casey. I'm looking forward to hearing about part two of your story. Sending positive vibes to you as you prepare to meet some of your new family this summer!
Adoption affects access to information about a person's history, most significantly for the person who was adopted. As this post reveals, it can also affect the parents who have adopted a child with complex medical needs and no clear underlying cause. This guest post is written by Michelle Seitzer, a mother whose daughter was adopted from Bulgaria at age 2. Michelle shares of the journey her family has taken to discover the reasons behind their daughter's medical issues and the search for care and treatments. The journey has been long and has included genetic testing that resulted in more questions than answers.
Michelle writes about the dreaded "VUS" (also called VOUS or a variant of uncertain significance) and her resolve to keep searching for answers to help her daughter.
Because the medical genetics community is still trying to understand how individual genetic variations affect health, the more we test the more uncertainty that often arises. Not every difference in DNA is harmful. With more than 7 billion humans alive today -- and each of them with a unique sequence of 3 billion letters of DNA -- the capacity for variation from one person to the next is nearly limitless.
Over time, variants that are at first uncertain can be "reclassified" into the category of clearly disease-causing or clearly harmless.
In the meantime, families like the Seitzers wait while the medical genetics world tries to sort them all out.
"This is VUS" by Michelle Seitzer
When we started the international adoption process in 2011, questions became our new normal. Nearly five years later, we still have many unanswered questions—maybe more.
We recently did two rounds of genetic testing on our daughter, who is 7. When we first met her, she was 2. When she joined our family, she was a few months shy of 3. We knew she had some special needs, the main ones being mild cerebral palsy (CP) and extreme prematurity (which can cause a number of delays and deficits). We anticipated developmental delays as a result of her time in the medical-social care home as well.
The medical report we received from our adoption agency was quite extensive, and after meeting and speaking with several medical staff members in her care home, the report seemed fairly reputable and accurate (this is not always the case with international adoptions). In fact, one of the most accurate lines in her medical record—even after being translated from Bulgarian—still holds true today (though it could apply to most children at any point in time): “Reacts to prohibition with displeasure.”
We quickly learned what’s on two-dimensional paper in black and white and what happens when that multidimensional child and all her history—knowns and unknowns—collides with a completely different culture and environment. When that child becomes part of a family. When that child is given opportunities to grow and thrive in ways her care home, as competent and compassionate as its staff seemed to be, could not offer.
Over the past five years, we’ve probably seen 20-30 different doctors, specialists, therapists, and more. Some have been expected. We had been advised by the medical director of her care home to follow up with a neurologist and an orthopedic specialist for her CP, and we’ve seen several orthopedists—including a surgeon who performed double hip surgery on her in 2016—and do yearly or as-needed visits with a neurologist. But some have been unexpected. When she was four, we were referred to a sports medicine doctor for a knee condition which showed up on an MRI.
Also since her arrival to the US in 2013, she’s had three sets of ear tubes surgically placed. These are quick and easy surgeries, but her consistently poor results on audiological tests even after having new, clear tubes led our ENT (ear, nose, and throat specialist) to refer us to the genetics department at Children’s Hospital of Philadelphia (CHOP). His hope was that we’d find an underlying cause or condition responsible for her hearing loss, and to determine if that condition is progressive (because she had a comprehensive brain MRI, we were able to look at those images and rule out any nerve damage or other physical “misconnections” responsible). Knowing her complex needs, he also hoped we might find a genetic “diagnosis” that would tie together all her many loose ends. I was hopeful for the same, but if I’ve learned anything as a special needs parent, it’s that things are rarely easily explained, able to be neatly packaged, or simple. There are acronyms for just about everything, and I’m now well-versed in the alphabet soup of the special needs & adoptive parenting parenting world.
We did the first round of genetic testing, a wide genome array, and were then encouraged to take the next step, whole exome sequencing (WES). It involved a blood test, exam, and a consult. Since we don’t have any family medical history or access to it, we believed whatever results were returned, the testing might at least provide some information about her current and future health needs. When you’re dealing with the mysteries of adoption, in our family’s opinion, some information is better than none at all.
We waited eagerly for the results, which came about three months later.
But true to her form of always keeping us and her doctors and therapists guessing, the WES results showed 5 genetic variations, all of which fell under the category of VOUS—variants of unknown significance. In the genetics world, "VOUS" basically means the variant could lead to nothing—it's essentially benign—or it could develop into something pathologic. Good or bad. Something or nothing. At this point, there’s not enough information to know for sure.
The test we hoped might bring one “easy” answer brought us more questions. We’re sort of getting used to that. But we press on. Is it because we want a diagnosis that could mean an even more difficult future for her than the one we already might imagine? Or something that would change the tremendously positive and even independent future we also imagine? No. We don’t want a diagnosis if there’s not one to have, but when you have a child with many unexplained health issues and challenges, you do long for a simple explanation—especially because it might lead to a simpler solution than all the therapies, treatments, and interventions we have and continue to try.
You long for some glimpse of the future: will she be able to have her own children, and if so, would they have similar health issues and challenges? Will any of her current “conditions” get worse? On the flip side, as genetic research improves and advances at light speed, could we also learn of a cure? A treatment that would help her and other kids like her?
Besides learning to “speak” alphabet soup, adoption and special needs parenting has certainly taught us to expect the unexpected. To live in the pain but also the joys of uncertainties. To know her story, and ours, and the stories of all the children and adults who have undergone or will undergo extensive genetic testing, is still unfolding.
If we can get a little more clarity on what we can and can’t change, great. If by doing so we can help others in similar situations, even better. If we don’t learn anything new at all, that’s fine too. We’re grateful for the opportunity to try, grateful for every moment with our daughter, and grateful for the people who have helped us try to understand her better so we can give her the best possible quality of life. And in the end, that’s the most significant and concrete finding of all: I can live with the unanswered questions so long as we’ve done our best to answer the important ones.
Michelle Seitzer has been writing since she was old enough to hold a pencil, but she’s been a freelance writer since 2008. Before her daughter joined their family, she spent more than a decade volunteering and working in senior living communities, and advocacy for elders continues to be one of her greatest passions. She currently lives with her family in an old stone farmhouse north of Philadelphia and loves traveling, the arts, and following interior design blogs on Instagram. Follow her on Twitter @MichelleSeitzer.